Schinzel-Giedion syndrome: A further cause of early myoclonic encephalopathy and vacuolating myelinopathy

Shuei Watanabe; Akitoshi Murayama; Kazuhiro Haginoya; Soichiro Tanaka; Noriko Togashi; Daiki Abukawa; Atsushi Sato; Masue Imaizumi; Hideto Yoshikawa; Rumiko Takayama; Keisuke Wakusawa; Satoru Kobayashi; Ikuko Sato; Akira Onuma

doi:10.1016/j.braindev.2011.03.010

Schinzel-Giedion syndrome: A further cause of early myoclonic encephalopathy and vacuolating myelinopathy

Shuei Watanabe, Akitoshi Murayama, Kazuhiro Haginoya, Soichiro Tanaka, Noriko Togashi, Daiki Abukawa, Atsushi Sato, Masue Imaizumi, Hideto Yoshikawa, Rumiko Takayama, Keisuke Wakusawa, Satoru Kobayashi, Ikuko Sato, Akira Onuma

Pediatrics

Research output: Contribution to journal › Article › peer-review

11 Citations (Scopus)

Abstract

Here, we report a male child with Schinzel-Giedion syndrome associated with intramyelinic edema detected on brain magnetic resonance imaging (MRI) and persistent suppression-burst pattern on electroencephalography (EEG) with erratic myoclonus of the extremities and face. Similar to nonketotic hyperglycinemia, Schinzel-Giedion syndrome may be recognized as another causative genetic disease of early myoclonic encephalopathy and vacuolating myelinopathy.

Original language	English
Pages (from-to)	151-155
Number of pages	5
Journal	Brain and Development
Volume	34
Issue number	2
DOIs	https://doi.org/10.1016/j.braindev.2011.03.010
Publication status	Published - 2012 Feb 1

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Developmental Neuroscience
Clinical Neurology

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10.1016/j.braindev.2011.03.010

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Watanabe, S., Murayama, A., Haginoya, K., Tanaka, S., Togashi, N., Abukawa, D., Sato, A., Imaizumi, M., Yoshikawa, H., Takayama, R., Wakusawa, K., Kobayashi, S., Sato, I., & Onuma, A. (2012). Schinzel-Giedion syndrome: A further cause of early myoclonic encephalopathy and vacuolating myelinopathy. Brain and Development, 34(2), 151-155. https://doi.org/10.1016/j.braindev.2011.03.010

Schinzel-Giedion syndrome : A further cause of early myoclonic encephalopathy and vacuolating myelinopathy. / Watanabe, Shuei; Murayama, Akitoshi; Haginoya, Kazuhiro; Tanaka, Soichiro; Togashi, Noriko; Abukawa, Daiki; Sato, Atsushi; Imaizumi, Masue; Yoshikawa, Hideto; Takayama, Rumiko; Wakusawa, Keisuke; Kobayashi, Satoru; Sato, Ikuko; Onuma, Akira.

In: Brain and Development, Vol. 34, No. 2, 01.02.2012, p. 151-155.

Research output: Contribution to journal › Article › peer-review

Watanabe, S, Murayama, A, Haginoya, K, Tanaka, S, Togashi, N, Abukawa, D, Sato, A, Imaizumi, M, Yoshikawa, H, Takayama, R, Wakusawa, K, Kobayashi, S, Sato, I & Onuma, A 2012, 'Schinzel-Giedion syndrome: A further cause of early myoclonic encephalopathy and vacuolating myelinopathy', Brain and Development, vol. 34, no. 2, pp. 151-155. https://doi.org/10.1016/j.braindev.2011.03.010

Watanabe, Shuei ; Murayama, Akitoshi ; Haginoya, Kazuhiro ; Tanaka, Soichiro ; Togashi, Noriko ; Abukawa, Daiki ; Sato, Atsushi ; Imaizumi, Masue ; Yoshikawa, Hideto ; Takayama, Rumiko ; Wakusawa, Keisuke ; Kobayashi, Satoru ; Sato, Ikuko ; Onuma, Akira. / Schinzel-Giedion syndrome : A further cause of early myoclonic encephalopathy and vacuolating myelinopathy. In: Brain and Development. 2012 ; Vol. 34, No. 2. pp. 151-155.

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Schinzel-Giedion syndrome: A further cause of early myoclonic encephalopathy and vacuolating myelinopathy

Abstract

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